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OBJECTIVE@#To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51).@*METHODS@#A child with MRD51 who was hospitalized at Guangzhou Women and Children's Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 5-year-and-3-month-old girl, had manifested autism spectrum disorder (ASD), mental retardation (MR), recurrent febrile convulsions and facial dysmorphism. WES revealed that she has harbored a novel heterozygous variant of c.142G>T (p.Glu48Ter) in the KMT5B gene. Sanger sequencing confirmed that neither of her parents has carried the same variant. The variant has not been recorded in the ClinVar, OMIM and HGMD, ESP, ExAC and 1000 Genomes databases. Analysis with online software including Mutation Taster, GERP++ and CADD indicated it to be pathogenic. Prediction with SWISS-MODEL online software suggested that the variant may have a significant impact on the structure of KMT5B protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic.@*CONCLUSION@#The c.142G>T (p.Glu48Ter) variant of the KMT5B gene probably underlay the MRD51 in this child. Above finding has expanded the spectrum of KMT5B gene mutations and provided a reference for clinical diagnosis and genetic counseling for this family.
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Humans , Female , Child, Preschool , Intellectual Disability/genetics , Autism Spectrum Disorder/genetics , MutationABSTRACT
1,25 (OH)2D,the active form of vitamin D,plays several roles in the body,influencing bone health as well as serum calcium and phosphate levels.Further,1,25(OH) 2D plays an important role in modifying immune function including improving innate immunity and suppressing autoimmune diseases by regulating adaptive immunity.For now,there is already some understanding of the links between 1,25 (OH)2D and rheumatic autoimmune diseases like rheumatoid arthritis and system lupus erythematosus and its regulatory mechanisms involved in these diseases.However,supplement vitamin D in these patients is still in the exploratory stage.The purpose of this article is to summary the recent advances in the links between the metabolism of vitamin D and rheumatic autoimmune diseases.
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Objective To investigate medication adherence and its influencing factors in community-based hypertensive patients in the Pearl River Delta of Guangdong Province, and lay the foundation for the development of targeted compliance interventions. Methods Between July 2015 and October 2016, a multi-stage cluster sampling method was used to conduct a community-based diagnostic survey in the Pearl River Delta region.A total of 1 829 community-based hypertension patients in this survey population were used to investigate medication adherence, the factors of which were derived through a multi-factor logistics regression analysis.Results The average medication-adherence score of hypertensive patients surveyed in this study was (4.6 ± 1.8), and patients with good medication adherence accounted for 62.82%(1 149/1 829).There were significant differences in medication adherence among patients according to their age, household registration types, marital status, level of education, employment status, medical payment methods,per capita monthly household income,drinking status,and family history of hypertension (P<0.05).Multivariate logistic regression analysis found that medication adherence was affected substantially by the type of household registration:local household types (OR= 0.537, 95% CI: 0.415-0.695); education level: college,bachelor and above (OR=2.139,95% CI:1.100-4.160); employment status: self-paying (OR=0.591, 95% CI: 0.376-0.930); and a family history of hypertension (OR= 1.279, 95% CI: 1.012-1.617).Conclusions It is necessary to pay more attention to medication adherence in patients with hypertension in communities.Given the influencing factors and characteristics illuminated by this study,it is suggested that various measures be taken to prevent and intervene in poor medication adherence, to improve the curative effect of hypertensive patients in communities.
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Hypertension is a common chronic disease which can lead to cardiac, cerebrovascular and renal damage; it is seriously harmful to human health. Cardiovascular disease caused by hypertension has become the first cause of death of residents in our country, the burden of disease has become more and more serious, how to manage hypertension has become an important public health issue in our country. In this review, the development and current situation of the community health management of hypertension at home and abroad are described and analyzed, the experience and practice worthy of learning are summarized to provide evidence for the prevention and control of hypertension in community.
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Objective To explore the correlation between the levels of liver fibrosis and liver fibrosis biochemical parameters of advanced schistosomiasis patients. Methods A total of 48 advanced schistosomiasis patients were investigated and they were examined by the liver biopsy and B ultrasound imaging. At the same time,the liver fibrosis biochemical parameters,including glu-tamine transpeptidase(GGT),alkaline phosphatase(AKP),procollagenⅢ(PC-Ⅲ),collagen typeⅣ(Ⅳ-C),hyaluronic acid (HA)and laminin(LN),were detected. The liver fibrosis levels were classified by the liver biopsy and B ultrasound imaging,re-spectively,and the correlation between the levels of liver fibrosis and liver fibrosis biochemical parameters were analyzed statisti-cally. Results There was no correlation between the liver fibrosis levels classified by the liver biopsy and all the liver fibrosis bio-chemical parameters;there was a weak correlation between the liver fibrosis levels classified by the B ultrasound imaging and GGT,AKP,LN and PC-Ⅲ,respectively;there was a significant correlation between the liver fibrosis levels classified by the B ul-trasound imaging and HA andⅣ-C,respectively. Conclusions B ultrasound examination is a better,noninvasive fibrosis in-spection method. Liver fibrosis biochemical parameters combined with the B ultrasound examination may better reflect the overall condition of liver fibrosis.
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Objective To study the long-term efficacy of splenectomy for patients with advanced shistosomiasis japonica.Methods Levels of WBC,RBC,PLT,EOS,ALT,ALP,GGT,A,TB,HA,LN,Ⅳ-C,PCⅢ,IGG,IGA,C3,C4,CD3,CD4,CD8,CD19 in periphetral venous blood were determined in 239 patients with advanced shistosomiasis.Meanwhile,the liver,gallbladder and spleen were examined with ultrasonography.Results The levels of WBC,PLT,EOS,ALT,ALP,IGG,IGA,LN,Ⅳ-C,CD19 increased in splenectomy group,the levels of A,TB,CD3,CD4,C3,C4 decreased in splenectomy group,while RBC,HA,PCⅢ,CD8 were not changed.Conclusion Splenectomy is a danger to hepatic function.Humoral immunity increases while cellular immunity decreases in splenectomy group.Splenectomy may aggravate the hepatic fibrosis in patients with advanced shistosomiasis.
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Objective To explore the substantial results of using comprehensive practical teaching mode and holistic nursing thinking method in the course of teaching fundamentals of nursing science,and then improve the vocational quality and ability of nursing students.Methods Randomly determined two classes as objectives: experiment class and control class.control class was adopt traditional practical teaching mode,experiment class was adopt comprehensive practical teaching mode in small community.Results Ability of standard operation,communication and knowledge were significant higher in experiment class than those of in control class.Conclusions Comprehensive practical teaching mode in small community has actual significance for strengthen the comprehendsive ability of nursing students.
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0.05), the IFN ?R1 in advanced cases without splenectomy was low ( P
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Objective To explore the occurrence and development of schistosomiasis japonica hepatic fibrosis, and the treatment countermeasure. Methods Three groups of patients,including advanced schistosomiasis (splenectomy involved), non-advanced schistosomiasis splenomegaly and advanced schistosomiasis with hepatitis, were followed up. Biochemical tests including hepatic fibrosis indexes, liver ultrasonography,lymphocyte subcluster, and membrane CD35 were examined. Immunohistochemical tests of liver cells were performed in some patients. Results A total of 94.06% of 1212 patients took various anti-schistosome treatments. The difference was significant for positive antigen and antibody to schistosome, LN and HA ,and the ultrasonic indexes of liver fibrosis among the three groups. The degree of liver substance pathohistological examinations showed inflammation had a positive correlation with hepatic fibrosis. The contents of C-Ⅰ, C-Ⅲ in portal regions, central vein and hepatic sinusoid were increased in advanced schistosomiasis hepatic fibrosis. In hepatic fibrosis, hepatic sinusoid showed two pathological changes of dilation and stricture. Conclusions In schistosomiasis japonica, hepatic sinusoid changes play a great role in hepatic fibrosis.Hepatic fibrosis would still develop even after the thorough anti-schistosome therapy. So, anti-fibrosis therapy is necessary.
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Objective To clarify the factors influencing development of cholecystopathy in schis-tosomiasis portal hypertension. Methods The data of 116 schistosomiasis portal hypertension patients from 1998 to 2002 were retrospectively analyzed and compared with non-liver disease pa-lients. Results Of the incidence of cholecystitis, the schistosomiasis portal hypertension patients vs non-liver-disease were 87.9% (102/116) vs 36.6% (15/41) (P0. 05). Of the incidence of cholecystolithiasis, the schistosomiasis portal hypertension patients vs non-liver-disease were 38.8% (45/ 116) vs 19.5% (8/0.41) (P0. 05). Conclusion The incidences of cholecystolithiasis and cholecystitis are closely correlated with portal hypertension in schistosomiasis, and are not closely correlated with hypersplenism.